Participant 105

Participant 105

She was born 2011 with small cerebellum and pons. Delayed motor- and cognitive development, weak muscle tone and ataxia.

Date of Report

Description

She was born 2011 with small cerebellum and pons. Delayed motor- and cognitive development, weak muscle tone and ataxia. 


Symptoms / Signs

  • Ataxia, Low muscle tone, 

Current Treatments

  • None

Prior Treatments

  • None

Considered treatments

  • None

Previously Considered Diagnoses

  • Pontocereberal hypoplacia (PCH), however no known genes match. Spino Cereberall Ataxia (SCA) tests were negative.

Genetic Variants of Interest

 


Contact

If this participant sounds like you or someone you know, please contact Wilhelm Foundation at info@wilhelmfoundation.org


More pictures 

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